Wednesday, August 22, 2012

Research: many good reasons for hope

I would like to share this entry on the Scientific American Blog, reporting on this year's LCA conference. It offers interesting insights into the exciting turns research is taking, or might take, in the near future.
Particularly intriguing is the idea of using old drugs for new purposes. These drugs have already been shown to be safe, therefore time to a trial would be shortened considerably.
The author is geneticist Ricki Lewis. It's a good read, and easy to understand. Enjoy!

Monday, August 13, 2012

Gene 18 identified

The identification of yet another gene causing Leber's Congenital Amaurosis has just been reported. Its name is NMNAT1, and it's the 18th gene linked to LCA.
A few articles on its discovery have already been published, including the work by Koenekoop at al
It's reassuring to see that LCA genes are constantly being uncovered; hopefully soon every LCA patient will be able to get a genetic diagnosis. And more importantly, of course knowing the gene is the first step leading to a cure. So this is great news!

Saturday, July 21, 2012

Most common CEP290 mutation might be closer to a cure

CEP290 is the most frequent gene causing LCA. Over 100 mutations of CEP290 have already been found, the most frequent of which is c.2991+1655A>G, responsible for 10% of LCA cases caused by this gene. This mutation looks particularly amenable for treatment, as it seems possible to correct it, whereby restoring the right amount of protein needed for proper cell functioning.
I have recently posted about a very promising Dutch research trying to do this
Now one more study has been published, this time by a French team, which was able to restore the needed amount of CEP290 protein in vitro, working on patients' cell lines. What is even more striking is that the approach was able to improve ciliation, i.e. the development of the cilia, the cell organells that photoreceptors of CEP290 patients lack, and thus cannot work properly.
Read the full article here